Abstract
Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan. We herein report a Japanese man presenting with fever, arthritis, liver dysfunction, and hyperferritinemia who was diagnosed with type 4 HH. He was heterozygous for the 1520A>G (His507Arg) mutation in the ferroportin-1 gene (SLC40A1). He had a familial cataract as an infant, but hereditary hyperferritinemia cataract syndrome was excluded. This is the first report of type 4 HH with juvenile cataracts and suggests that there is an association between hyperferritinemia and early cataract formation.
Original language | English |
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Pages (from-to) | 2697-2701 |
Number of pages | 5 |
Journal | Internal Medicine |
Volume | 55 |
Issue number | 18 |
DOIs | |
Publication status | Published - 2016 |
Externally published | Yes |
All Science Journal Classification (ASJC) codes
- Internal Medicine